Phenotypic variability of GABRA1-related epilepsy in monozygotic twins.
Journal
Annals of clinical and translational neurology
ISSN: 2328-9503
Titre abrégé: Ann Clin Transl Neurol
Pays: United States
ID NLM: 101623278
Informations de publication
Date de publication:
11 2019
11 2019
Historique:
received:
08
07
2019
revised:
26
08
2019
accepted:
26
08
2019
pubmed:
1
10
2019
medline:
22
9
2020
entrez:
1
10
2019
Statut:
ppublish
Résumé
Variants in GABRA1 have been associated with different epilepsies ranging from mild generalized forms to epileptic encephalopathies. Despite the broad clinical spectrum, phenotypes were found to be largely concordant within families. Contrary to this observation, we report monozygotic twin sisters with generalized epilepsy due to the c.541C>T; p.(Pro181Ser) de novo variant in GABRA1. One experienced juvenile absence seizures promptly responding to first-line medication, whereas the second developed severe treatment-refractory epilepsy with febrile, absence, atonic, and tonic-clonic seizures indicating marked intrafamilial variability in GABRA1-related epilepsy. Moreover, we provide a molecular characterization of the novel variant based on recently published structural data.
Identifiants
pubmed: 31568673
doi: 10.1002/acn3.50895
pmc: PMC6856628
doi:
Substances chimiques
GABRA1 protein, human
0
Receptors, GABA-A
0
Types de publication
Case Reports
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
2317-2322Subventions
Organisme : Technical University Munich
Pays : International
Organisme : Austrian Society of Neurology
Pays : International
Organisme : Austrian Society of Epileptology
Pays : International
Informations de copyright
© 2019 The Authors. Annals of Clinical and Translational Neurology published by Wiley Periodicals, Inc on behalf of American Neurological Association.
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